Gene

jph1b

ID
ZDB-GENE-060616-389
Name
junctophilin 1b
Symbol
jph1b Nomenclature History
Previous Names
  • zgc:136916
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to localize to several cellular components, including endoplasmic reticulum membrane; junctional membrane complex; and sarcoplasmic reticulum. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Orthologous to human JPH1 (junctophilin 1).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With jph1b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease axonal type 2K Alliance ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K 607831
Associated With jph1b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR017191 Junctophilin
Repeat IPR003409 MORN motif
Domain Details Per Protein
Protein Length Junctophilin MORN motif
UniProtKB:Q1ECU7 673
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations